NC_000014.9:g.95696766_96390792dup AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2015
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000190406.2

Allele description [Variation Report for NC_000014.9:g.95696766_96390792dup]

NC_000014.9:g.95696766_96390792dup

Genes:

LOC130056381:ATAC-STARR-seq lymphoblastoid active region 8971 [Gene]
LOC130056382:ATAC-STARR-seq lymphoblastoid active region 8972 [Gene]
LOC130056383:ATAC-STARR-seq lymphoblastoid active region 8973 [Gene]
LOC130056384:ATAC-STARR-seq lymphoblastoid active region 8974 [Gene]
LOC130056385:ATAC-STARR-seq lymphoblastoid active region 8975 [Gene]
LOC130056386:ATAC-STARR-seq lymphoblastoid active region 8976 [Gene]
LOC130056388:ATAC-STARR-seq lymphoblastoid active region 8977 [Gene]
LOC130056389:ATAC-STARR-seq lymphoblastoid active region 8978 [Gene]
LOC130056390:ATAC-STARR-seq lymphoblastoid active region 8979 [Gene]
LOC130056391:ATAC-STARR-seq lymphoblastoid active region 8980 [Gene]
LOC130056394:ATAC-STARR-seq lymphoblastoid active region 8981 [Gene]
LOC130056395:ATAC-STARR-seq lymphoblastoid active region 8982 [Gene]
LOC130056396:ATAC-STARR-seq lymphoblastoid active region 8983 [Gene]
LOC130056397:ATAC-STARR-seq lymphoblastoid active region 8985 [Gene]
LOC130056387:ATAC-STARR-seq lymphoblastoid silent region 6050 [Gene]
LOC130056392:ATAC-STARR-seq lymphoblastoid silent region 6051 [Gene]
LOC130056393:ATAC-STARR-seq lymphoblastoid silent region 6052 [Gene]
LOC126862037:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96552361-96553560 [Gene]
LOC126862038:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96734992-96736191 [Gene]
GSKIP:GSK3B interacting protein [Gene - OMIM - HGNC]
LOC126862036:MED14-independent group 3 enhancer GRCh37_chr14:96357499-96358698 [Gene]
LOC129390666:MPRA-validated peak2244 silencer [Gene]
LOC132090293:Neanderthal introgressed variant-containing enhancer experimental_38841 [Gene]
LOC132090294:Neanderthal introgressed variant-containing enhancer experimental_38870 [Gene]
LOC112272571:Sharpr-MPRA regulatory region 11883 [Gene]
TCL1A:TCL1 family AKT coactivator A [Gene - OMIM - HGNC]
TUNAR:TCL1 upstream neural differentiation-associated RNA [Gene - OMIM - HGNC]
ATG2B:autophagy related 2B [Gene - OMIM - HGNC]
BDKRB1:bradykinin receptor B1 [Gene - OMIM - HGNC]
BDKRB2:bradykinin receptor B2 [Gene - OMIM - HGNC]
C14orf132:chromosome 14 open reading frame 132 [Gene - HGNC]
LOC107984703:uncharacterized LOC107984703 [Gene]

Variant type:

Duplication

Cytogenetic location:

14q32.13-32.2

Genomic location:

Preferred name:

NC_000014.9:g.95696766_96390792dup

HGVS:

NC_000014.9:g.95696766_96390792dup
NC_000014.8:g.96163103_96857129dup

Condition(s)

Name:: Thrombocythemia 1 (THCYT1)
Synonyms:: Idiopathic thrombocythemia; THROMBOCYTOSIS 1; THROMBOCYTHEMIA, SOMATIC
Identifiers:: MONDO: MONDO:0008554; MedGen: C3277671; OMIM: 187950

Name:: Acute myeloid leukemia (AML)
Synonyms:: Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

Recent activity

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Clitopilus prunulus strain DSMZ 1745 internal transcribed spacer 1, partial sequ...
Clitopilus prunulus strain DSMZ 1745 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|238801162|gb|FJ770405.1|

Nucleotide
cytochrome b, partial (mitochondrion) [Teretistris fernandinae]
cytochrome b, partial (mitochondrion) [Teretistris fernandinae]
gi|32441847|gb|AAP81992.1|

Protein
Arabidopsis thaliana P-loop containing nucleoside triphosphate hydrolases superf...
Arabidopsis thaliana P-loop containing nucleoside triphosphate hydrolases superfamily protein (AT2G42520), mRNA
gi|1063703092|ref|NM_129813.5|

Nucleotide
Campylobacter coli CVM N29710 plasmid pN29710-1, complete sequence
Campylobacter coli CVM N29710 plasmid pN29710-1, complete sequence
gi|543950817|ref|NC_022355.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000224010	INSERM UMR 1170, INSERM	criteria provided, single submitter (Submitter's publication)	Likely pathogenic (Jun 1, 2015)	germline	research	publication submitted

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000224010

INSERM UMR 1170, INSERM

criteria provided, single submitter

(Submitter's publication)

Likely pathogenic
(Jun 1, 2015)

germline

research

publication submitted

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
West Indies	germline	yes	10	4	not provided	not provided	yes	research

Details of each submission

From INSERM UMR 1170, INSERM, SCV000224010.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	West Indies	10	not provided	yes	research	not provided

Description

overexpression of ATG2B and GSKIP enhance hematopoietic progenitor differentiation

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	blood	not provided		10	not provided	4	not provided

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine